1.
Hum Genet
; 45(1): 63-9, 1978 Nov 24.
Artigo
em Inglês
| MEDLINE
| ID: mdl-730182
RESUMO
An 8-year-old girl with profound mental retardation and a neurologic syndrome associated with morphologic abnormalities was found to have a supernumerary small submetacentric chromosome. Several members of her family carried a balanced translocation t(12;18)(p12;q11), and the child's karyotype could be explained by 3:1 maternal segregation (tertiary trisomy). The proband was trisomic for 12p13 and 18p. A gene dosage effect was demonstrated for triosephosphate isomerase and glyceraldehyde-3-phosphate in erythrocytes and leukocytes allowing us to assign the corresponding loci to the tip of the chromosome 12 short arm.
Assuntos
Carboidratos Epimerases/genética , Cromossomos Humanos 16-18 , Cromossomos Humanos 6-12 e X , Gliceraldeído-3-Fosfato Desidrogenases/genética , Triose-Fosfato Isomerase/genética , Trissomia , Criança , Eritrócitos/enzimologia , Feminino , Gliceraldeído-3-Fosfato Desidrogenases/sangue , Humanos , Deficiência Intelectual/genética , Leucócitos/enzimologia , Translocação Genética , Triose-Fosfato Isomerase/sangue
2.
Bord Med
; 5(9): 1037-43, 1972 May.
Artigo
em Francês
| MEDLINE
| ID: mdl-5080327